Variant report

Variant	rs543159563
Chromosome Location	chr3:49508692-49508693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:49506252-49509681	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr3:49507857-49508793	IMR90	lung:	n/a	n/a
3	HCFC1	chr3:49506744-49509311	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr3:49506525-49508730	IMR90	lung:	n/a	n/a
5	POLR2A	chr3:49508665-49508732	MCF10A-Er-Src	breast:	n/a	n/a
6	RELA	chr3:49507144-49508756	GM10847	blood:	n/a	n/a
7	POLR2A	chr3:49506525-49508693	K562	blood:	n/a	n/a
8	MAX	chr3:49508553-49508787	K562	blood:	n/a	n/a
9	CTCF	chr3:49508640-49508790	GM12864	blood:	n/a	n/a
10	POLR2A	chr3:49508648-49508806	HepG2	liver:	n/a	n/a
11	KAP1	chr3:49506587-49508751	HEK293	kidney:	n/a	n/a
12	POLR2A	chr3:49507046-49508756	PBDE	blood:	n/a	n/a
13	MYC	chr3:49508570-49508860	MCF10A-Er-Src	breast:	n/a	n/a
14	RCOR1	chr3:49508624-49508706	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:49506311-49508860	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr3:49506448-49509224	IMR90	lung:	n/a	n/a
17	CHD1	chr3:49508478-49508783	GM12878	blood:	n/a	n/a
18	MAZ	chr3:49506361-49509347	IMR90	lung:	n/a	chr3:49507013-49507023 chr3:49509096-49509107

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49506494..49510419-chr3:49709515..49713189,4	MCF-7	breast:
2	chr3:49507792..49509395-chr3:49538517..49540372,2	MCF-7	breast:
3	chr3:49506988..49509379-chr3:49529279..49532110,2	MCF-7	breast:
4	chr3:49506481..49509131-chr3:49546764..49549304,2	MCF-7	breast:
5	chr3:49447402..49451449-chr3:49505916..49509646,7	K562	blood:
6	chr3:49506444..49509653-chr3:49710909..49714606,3	K562	blood:
7	chr3:49056423..49060378-chr3:49506507..49510634,4	K562	blood:
8	chr3:49447402..49452044-chr3:49506038..49509646,9	K562	blood:
9	chr16:30536975..30539864-chr3:49506980..49509217,2	MCF-7	breast:
10	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:
11	chr3:49130007..49132020-chr3:49507888..49509693,2	K562	blood:
12	chr3:49448236..49450769-chr3:49505936..49509558,3	MCF-7	breast:
13	chr3:49448736..49451146-chr3:49507489..49509395,2	MCF-7	breast:
14	chr3:49460325..49461920-chr3:49506460..49509220,2	MCF-7	breast:
15	chr3:49503012..49504721-chr3:49506646..49509185,2	MCF-7	breast:
16	chr3:49507807..49509484-chr3:49555798..49559257,3	MCF-7	breast:
17	chr3:49507938..49509712-chr3:49512685..49515016,2	K562	blood:
18	chr3:49376524..49378988-chr3:49507303..49509521,2	MCF-7	breast:
19	chr3:49508269..49511222-chr3:49551619..49554342,2	K562	blood:
20	chr3:49455358..49458192-chr3:49507443..49509538,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP130	TF binding region
ENSG00000169957	Chromatin interaction
ENSG00000235261	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000198218	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000201301	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000145020	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000067560	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3420339	chr3:49505548-49510046	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3439400	chr3:49506373-49508921	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3380038	chr3:49506748-49508796	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49506400-49509200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49506400-49509600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr3:49506800-49508800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:49506800-49509200	Active TSS	Psoas Muscle	Psoas
5	chr3:49507000-49508800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:49507000-49508800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:49507000-49508800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:49507000-49508800	Active TSS	Lung	lung
9	chr3:49507000-49508800	Active TSS	Ovary	ovary
10	chr3:49507000-49509000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:49507000-49509000	Active TSS	Aorta	Aorta
12	chr3:49507000-49509000	Active TSS	A549	lung
13	chr3:49507200-49508800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:49507200-49508800	Active TSS	Esophagus	oesophagus
15	chr3:49507200-49508800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr3:49507200-49508800	Active TSS	Small Intestine	intestine
17	chr3:49507200-49509000	Active TSS	Fetal Intestine Small	intestine
18	chr3:49507200-49509200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:49507200-49509200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:49507200-49509200	Active TSS	Left Ventricle	heart
21	chr3:49507400-49508800	Active TSS	HMEC	breast
22	chr3:49507400-49508800	Active TSS	K562	blood
23	chr3:49507400-49509000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:49507400-49509000	Active TSS	HepG2	liver
25	chr3:49507400-49509000	Active TSS	NHDF-Ad	bronchial
26	chr3:49507400-49509200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:49507400-49509200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:49507400-49509200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:49507400-49509200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:49507400-49509200	Active TSS	Fetal Muscle Trunk	muscle
31	chr3:49507400-49509200	Active TSS	Pancreas	Pancrea
32	chr3:49507400-49509200	Active TSS	Right Ventricle	heart
33	chr3:49507400-49509400	Active TSS	HSMM	muscle
34	chr3:49507400-49509400	Active TSS	HSMMtube	muscle
35	chr3:49507600-49509000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:49507800-49509000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr3:49508000-49508800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr3:49508000-49509000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:49508000-49509200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:49508000-49509200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:49508200-49508800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr3:49508200-49508800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr3:49508200-49508800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr3:49508200-49508800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:49508200-49508800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:49508200-49508800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr3:49508200-49508800	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr3:49508200-49508800	Flanking Active TSS	Fetal Thymus	thymus
49	chr3:49508200-49509000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr3:49508200-49509000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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